Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000613 | HP:0000613 | Photophobia | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 826 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ADAM9 CL E G H | 8754 | 216 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 41 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:618977 | OPTIC ATROPHY 12; OPA12 | | | | 86 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 114 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ANTXR1 CL E G H | 84168 | 21014 | OMIM:230740 | Gapo syndrome | . | | | 8 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:1000 | Ocular albinism with late-onset sensorineural deafness | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | AP3D1 CL E G H | 8943 | 568 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 10 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ATF6 CL E G H | 22926 | 791 | OMIM:616517 | ACHROMATOPSIA 7; ACHM7 | | | | 10 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 10 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040283 - Occasional | | | 8 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040283 - Occasional | | | 20 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | . | | | 94 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | HP:0040283 - Occasional | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | . | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 147 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CDHR1 CL E G H | 92211 | 14550 | OMIM:613660 | CONE-ROD DYSTROPHY 15; CORD15 | | | | 147 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CEP250 CL E G H | 11190 | 1859 | OMIM:618358 | CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2 | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CEP78 CL E G H | 84131 | 25740 | OMIM:617236 | CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL | | | | 9 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:617547 | Retinal dystrophy with or without macular staphyloma | . | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CHST6 CL E G H | 4166 | 6938 | OMIM:217800 | Macular dystrophy, corneal, 1 | . | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CLTRN CL E G H | 57393 | 29437 | ORPHA:2116 | Hartnup disease | HP:0040282 - Frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 82 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGA3 CL E G H | 1261 | 2150 | OMIM:216900 | Achromatopsia 2 | . | | | 82 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 194 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGB3 CL E G H | 54714 | 2153 | OMIM:262300 | Achromatopsia 3 | . | | | 194 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 194 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | . | | | 61 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CNNM4 CL E G H | 26504 | 105 | ORPHA:1873 | Jalili syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:122400 | Epithelial recurrent erosion dystrophy | . | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:180000 | Retinal arteries, tortuosity of | | | | 193 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 158 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CRX CL E G H | 1406 | 2383 | OMIM:613829 | Leber congenital amaurosis 7 | . | | | 158 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | HP:0040283 - Occasional | | | 11 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | . | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219750 | Cystinosis, adult nonnephropathic | . | | | 178 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | | | | 178 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411641 | Ocular cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DCT CL E G H | 1638 | 2709 | OMIM:619165 | OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8 | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DDB2 CL E G H | 1643 | 2718 | OMIM:278740 | Xeroderma pigmentosum, complementation group E | . | | | 30 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040283 - Occasional | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DRAM2 CL E G H | 128338 | 28769 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 9 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | DRAM2 CL E G H | 128338 | 28769 | OMIM:616502 | Cone-Rod dystrophy 21 | HP:0040283 - Occasional | | | 9 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | . | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040283 - Occasional | | | 170 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | . | | | 106 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 13 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | . | | | 209 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | FOXC2 CL E G H | 2303 | 3801 | OMIM:153400 | Lymphedema-Distichiasis syndrome | . | | | 20 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GAN CL E G H | 8139 | 4137 | OMIM:256850 | Giant axonal neuropathy 1, autosomal recessive | | | | 121 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 19 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GNAT2 CL E G H | 2780 | 4394 | OMIM:613856 | ACHROMATOPSIA 4; ACHM4 | | | | 19 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 19 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GNB3 CL E G H | 2784 | 4400 | OMIM:617024 | Night blindness, congenital stationary, type 1H | . | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300500 | Albinism, ocular, type I | . | | | 64 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GPR143 CL E G H | 4935 | 20145 | ORPHA:54 | X-linked recessive ocular albinism | HP:0040281 - Very frequent | | | 64 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUCA1A CL E G H | 2978 | 4678 | OMIM:602093 | Cone dystrophy 3 | . | | | 24 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 24 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 24 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 124 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | . | | | 124 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | . | | | 124 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040281 - Very frequent | | | 99 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HARS1 CL E G H | 3035 | 4816 | OMIM:614504 | Usher syndrome, type IIIB | . | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | . | | | 11 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040283 - Occasional | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | . | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | HP:0040284 - Very rare | | | 45 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 60 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IKZF1 CL E G H | 10320 | 13176 | ORPHA:36426 | Stevens-Johnson syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:616079 | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities | . | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:614186 | Leber congenital amaurosis 16 | . | | | 42 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KCNV2 CL E G H | 169522 | 19698 | OMIM:610356 | Retinal cone dystrophy 3B | . | | | 73 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | . | | | 22 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KRT3 CL E G H | 3850 | 6440 | OMIM:618767 | CORNEAL DYSTROPHY, MEESMANN, 2; MECD2 | | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LRMDA CL E G H | 83938 | 23405 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 13 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:613086 | Glaucoma 3, primary congenital, D | . | | | 123 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240071 | Classic progressive supranuclear palsy syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | . | | | 140 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | . | | | 78 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040281 - Very frequent | | | 78 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 281 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | HP:0040283 - Occasional | | | 26 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | . | | | 217 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 15 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | HP:0040283 - Occasional | | | 15 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040282 - Frequent | | | 187 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | . | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300424 | Retinitis pigmentosa 23 | | | | 201 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OPN1LW CL E G H | 5956 | 9936 | OMIM:303700 | Blue cone monochromacy | . | | | 7 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OPN1LW CL E G H | 5956 | 9936 | ORPHA:16 | Blue cone monochromatism | HP:0040283 - Occasional | | | 7 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OPN1LW CL E G H | 5956 | 9936 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OPN1MW CL E G H | 2652 | 4206 | OMIM:303700 | Blue cone monochromacy | . | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OPN1MW CL E G H | 2652 | 4206 | ORPHA:16 | Blue cone monochromatism | HP:0040283 - Occasional | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OPN1MW CL E G H | 2652 | 4206 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OPN1SW CL E G H | 611 | 1012 | ORPHA:88629 | Tritanopia | HP:0040283 - Occasional | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PCNA CL E G H | 5111 | 8729 | ORPHA:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 80 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6C CL E G H | 5146 | 8787 | OMIM:613093 | Cone dystrophy 4 | . | | | 80 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 80 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 14 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PDE6H CL E G H | 5149 | 8790 | OMIM:610024 | Retinal cone dystrophy 3A | . | | | 14 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040283 - Occasional | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PIKFYVE CL E G H | 200576 | 23785 | OMIM:121850 | Corneal fleck dystrophy | . | | | 112 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PITPNM3 CL E G H | 83394 | 21043 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 135 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | . | | | 135 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PLCD1 CL E G H | 5333 | 9060 | ORPHA:2387 | Leukonychia totalis | HP:0040282 - Frequent | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | . | | | 103 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | POC1B CL E G H | 282809 | 30836 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | POLH CL E G H | 5429 | 9181 | ORPHA:90342 | Xeroderma pigmentosum variant | HP:0040282 - Frequent | | | 155 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | POLH CL E G H | 5429 | 9181 | OMIM:278750 | Xeroderma pigmentosum, Variant type | . | | | 155 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 110 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:613105 | Choroidal dystrophy, central areolar 2 | . | | | 159 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 159 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:169150 | Macular dystrophy, patterned, 1 | HP:0040283 - Occasional | | | 159 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608161 | Macular dystrophy, vitelliform, 3 | . | | | 159 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RAB28 CL E G H | 9364 | 9768 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 6 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RAX2 CL E G H | 84839 | 18286 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 52 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:610381 | Cone-Rod dystrophy 11 | HP:0040283 - Occasional | | | 52 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RGS9 CL E G H | 8787 | 10004 | ORPHA:75374 | Bradyopsia | HP:0040281 - Very frequent | | | 9 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RGS9BP CL E G H | 388531 | 30304 | ORPHA:75374 | Bradyopsia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RIMS1 CL E G H | 22999 | 17282 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 102 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RIMS2 CL E G H | 9699 | 17283 | OMIM:618970 | CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS | | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040281 - Very frequent | | | 200 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 200 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 109 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:608194 | CONE-ROD DYSTROPHY 13; CORD13 | | | | 109 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RPGRIP1 CL E G H | 57096 | 13436 | OMIM:613826 | Leber congenital amaurosis 6 | . | | | 109 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | RTN4IP1 CL E G H | 84816 | 18647 | OMIM:616732 | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10 | | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:609634 | Migraine, familial hemiplegic, 3 | . | | | 1053 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 48 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | . | | | 48 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040281 - Very frequent | | | 63 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | . | | | 63 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC24A5 CL E G H | 283652 | 20611 | OMIM:113750 | Albinism, oculocutaneous, type VI | . | | | 12 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC24A5 CL E G H | 283652 | 20611 | ORPHA:370097 | Oculocutaneous albinism type 6 | HP:0040281 - Very frequent | | | 12 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040282 - Frequent | | | 42 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC6A19 CL E G H | 340024 | 27960 | ORPHA:2116 | Hartnup disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TACSTD2 CL E G H | 4070 | 11530 | OMIM:204870 | Corneal dystrophy, gelatinous drop-like | . | | | 42 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TAT CL E G H | 6898 | 11573 | ORPHA:28378 | Tyrosinemia type 2 | HP:0040282 - Frequent | | | 43 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:602082 | Corneal dystrophy of bowman layer, type II | . | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:608470 | Corneal dystrophy, Reis-Bucklers type | | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040282 - Frequent | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040282 - Frequent | | | 58 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | . | | | 15 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TLCD3B CL E G H | 83723 | 25295 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TLCD3B CL E G H | 83723 | 25295 | OMIM:619531 | CONE-ROD DYSTROPHY 22; CORD22 | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TNF CL E G H | 7124 | 11892 | OMIM:157300 | Migraine with or without aura, susceptibility to, 1 | . | | | 7 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TTLL5 CL E G H | 23093 | 19963 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 9 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TYR CL E G H | 7299 | 12442 | OMIM:203100 | Albinism, oculocutaneous, type IA | . | | | 146 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TYR CL E G H | 7299 | 12442 | OMIM:606952 | Albinism, oculocutaneous, type IB | . | | | 146 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040281 - Very frequent | | | 146 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040282 - Frequent | | | 146 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | UNC119 CL E G H | 9094 | 12565 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 30 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:615179 | Albinism, oculocutaneous, type V | . | | | 51 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | XPA CL E G H | 7507 | 12814 | OMIM:278700 | Xeroderma pigmentosum, complementation group A | . | | | 34 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | XPC CL E G H | 7508 | 12816 | OMIM:278720 | Xeroderma pigmentosum, complementation group C | . | | | 86 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | . | | | 14 | | |
HP:0000613 | HP:0000613 | Photophobia | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |